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Gabra2C57BL/6J+em1Geh
Endonuclease-mediated Allele Detail
Summary
Symbol: Gabra2C57BL/6J+em1Geh
Name: gamma-aminobutyric acid type A receptor subunit alpha 2; endonuclease-mediated revertant 1, Gregg E Homanics
MGI ID: MGI:6381661
Synonyms: Gabra2em1Geh, Gabra2KI, Rr126C57BL/6J+em1Geh
Gene: Gabra2  Location: Chr5:71115735-71253192 bp, - strand  Genetic Position: Chr5, 37.59 cM
Alliance: Gabra2C57BL/6J+em1Geh page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Modified regulatory region)
Mutations:    Insertion, Single point mutation
 
Mutation detailsCRISPR/Cas9 was used to insert a single base pair (A on negative strand) between Chr5:71,014,638-639 to correct the spontaneous deletion of an A in intron 4 that is inherent in C57BL/6J and BXD40. This restores the allele to the "wild-type" form as found in C57BL/6NJ, C57BL/6ByJ, C57BL/6EiJ, DBA/2J and others. (J:280223)
Inheritance:    Dominant
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gabra2 Mutation:  34 strains or lines available
References
Original:  J:280223 Mulligan MK, et al., Identification of a Functional Non-coding Variant in the GABA A Receptor alpha2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research. Front Genet. 2019;10:188
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory